ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.245C>T (p.Pro82Leu)

dbSNP: rs529427223
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000151225 SCV000199088 uncertain significance not specified 2014-08-21 criteria provided, single submitter clinical testing The Pro82Leu variant in MYH6 gene has not been previously reported in individual s with cardiomyopathy or in large population studies. Computational prediction t ools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the Pro82Leu variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV001041444 SCV001205064 likely benign Hypertrophic cardiomyopathy 14 2024-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002453489 SCV002738194 uncertain significance Cardiovascular phenotype 2020-03-06 criteria provided, single submitter clinical testing The p.P82L variant (also known as c.245C>T), located in coding exon 2 of the MYH6 gene, results from a C to T substitution at nucleotide position 245. The proline at codon 82 is replaced by leucine, an amino acid with similar properties. This alteration has been reported in a hypertrophic cardiomyopathy (HCM) cohort; however, clinical details were limited (Lopes LR et al. Heart, 2015 Feb;101:294-301). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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